THERMAL, Calif. -- Josué Candelario can no longer speak, sit up or stand. The 2-year-old used to be able to crawl, took his first steps and spoke to his mother in Spanish: "leche," "jugo," "pan," "Mamá."

But his voice and ability to move have swiftly faded as a rare genetic illness has taken hold. His legs now lie stiff, his hands closed in a constant grasp. He is fed through a tube.

Still, when his mother holds him and coos "Hola, Josué," he looks at her and his brown eyes light up. He breaks into a toothy smile, and it gives his mother strength to go on.

Josué has metachromatic leukodystrophy, a disease that destroys the myelin covering that insulates nerves in the brain and nervous system.

There is no known cure, and most children with the disease die by age 5.

Coping with the progression of the illness is a painful, taxing ordeal for any family. And in the case of Reyna Melgar, a Mexican-born farmworker who has stopped working to care for her son, the disease has brought an especially heavy burden.

"The only thing I do is tell myself: 'He needs me and I have to be strong for him,'" she said, sobbing in the living room of her trailer while her son napped in another room.

Josué has insurance through Medi-Cal, and his doctors prescribe medications and see him for checkups. But lately, his mother has been looking for additional help to buy basic medical supplies, such as gauze pads for cleaning the area of his belly around the feeding tube. The boy's neurologist recently wrote a prescription to help provide diapers.

"That's the only thing I'm concerned about," she said between tears, "that he have the things he needs so that I can keep on taking care of him, cleaning him, giving him his medicine."

Melgar is raising her three children alone and living with her sister in a dusty mobile home park surrounded by desert, lettuce fields and date palm plantations. She used to work harvesting grapes, but now she is getting by on food stamps.

The family's situation illustrates how rare diseases can lead to crushing hardships for the poor, even when they have basic health insurance and receive other financial help.

And while there are clinics that provide coordinated treatment for children with other serious illnesses, there is no such area clinic for degenerative diseases of the central nervous system, said Dr. David Michelson, a pediatric neurologist who has been seeing Josué at Loma Linda University Medical Center. He said the level of intensive, all-encompassing care provided to kids diagnosed with some other illnesses simply isn't available for Josué.

"I think that is one of the major deficits in medical care in general, that things are very fragmented, and you have complex cases like this where the child has to see six different sub-specialists, but everybody gives the mother appointments on different days and different times," Michelson said. He said it's particularly difficult for low-income parents like Melgar, who often must rely on others for rides to distant appointments.

"There's a gap that this kid fell into where there's no organized approach to it," Michelson said. The way insurance handles such cases, he said, "we can't just order a social worker or order a case manager to coordinate everything or have everybody see him on the same day. We'll be penalized or that won't be paid for, or the family will get a bill for something that they can't afford."

He said that deficiency in the health care system deepens the stress for parents like Melgar. And as the disease progresses and Josué's condition deteriorates, the trials and demands weighing on his mother are likely to grow.

Progressive decline

Metachromatic leukodystrophy, or MLD, is so rare that a typical pediatric neurologist could see just a few cases in an entire career. The genetic disease is hereditary and can be passed on to a child when both parents are carriers of a certain MLD mutation.

Reyna Melgar holds her son Josué outside her home in Thermal, Calif.(Photo: Michael Snyder, The (Palm Springs, Calif.) Desert Sun)

The disease is caused by a deficiency of an enzyme and leads to the buildup of fatty materials in the brain and peripheral nerves. That change damages the myelin, which normally covers nerve fibers, and leads to a progressive deterioration of the brain and nervous system's ability to communicate.

MLD can appear in infants, older children or adults. In the "late infantile" form symptoms often emerge after the first year of life: difficulty walking, weakness and wasting, rigid muscles, paralysis and seizures.

During Josué's first year, his mother didn't know anything was wrong. He seemed healthy, just like his older brother and sister. Melgar worked in the fields and took Josué to day care while her other children went to school.

But then symptoms began to appear. Even as he approached his second birthday, he was unable to walk independently. He seemed to be growing weaker, and his mother eventually took him to the hospital. Last July, at 2 years and 4 months old, Josué was diagnosed with MLD.

In November, he suddenly went into convulsions and his mother rushed him to a hospital. He was then flown by helicopter to the Loma Linda hospital, where doctors provided emergency treatment and gave him medications to help prevent seizures.

Since his release from the hospital, his mother has been taking care of Josué at home, spoon-feeding him pureed meals while also pumping in liquid food through the tube.

Doctors have explained to Melgar that the disease gets progressively worse, and that the treatments aim to keep him as comfortable as possible. She understands their words, but accepting is much harder.

Holding the boy in her arms, she said quietly: "How are you, sweetie?"

"He does hear," she remarked as the boy grinned. Smiling back, she told him: "What is it, my love? How are you?"

During several hours talking in her living room, her mood shifted as she went from saying he could die to saying there just might be some hope.

"When I hug him, when I talk to him and when his brother and sister play, he laughs. He still looks well and hears, but he can't talk," Melgar said. "I pray to God that he'll have mercy on me and that he'll help me, because he knows my needs and he knows my pain and my sadness. And he knows my son's illness."

Later, she acknowledged: "With time, he's getting worse."

"I want to be strong to move forward, but sometimes I think I'm not," she said, her tears flowing again. "Only God knows if he's going to be with me very long."

Looking for help

Medical research is underway to try to find treatments for MLD and other similar diseases. Bone marrow and stem cell transplants have been tried for some patients who have yet to show symptoms. Such patients are usually identified after an older sibling or another family member is diagnosed.

Researchers in Italy are studying gene therapy, with promising preliminary results. An enzyme replacement therapy is also being studied.

These experimental treatments are designed to halt disease progression, but experts say they cannot repair damage that has already been done.

"There are some pharmaceutical companies that are working hard to try to bring treatments to clinical trial," said Dr. Adeline Vanderver, director of the Myelin Disorders Clinic at Children's National Medical Center in Washington.

"I think in the next couple years, treatments are going to emerge, but they're only going to be effective for those patients who are diagnosed early," Vanderver said. "So I think increased awareness and early diagnosis is key … so that patients can actually benefit from the therapies that are going to be emerging."

Those hopes, however, remain too far in the future for Josué, who will turn 3 this month.

After seeing the boy for a checkup, Dr. Michelson said his patient appears increasingly fragile and probably won't survive more than two or three years. Michelson agreed to be interviewed after Josué's mother consented.

"It's one of the worst situations that we have to face, but we appreciate that somebody has to be there for these families to be a steady hand and be a person they can go to with questions as things start to deteriorate. And I would say it's something I actually see as one of the best things I can do as a child neurologist," Michelson said. "There's a lot of supportive care that can be given to at least make the transitions into deeper disability less painful, less uncomfortable, easier for the family."

A wealthier family would have an easier time providing quality treatment at home. For a mother like Melgar, just feeding her family and keeping up her home is often difficult.

She has been using a portable stove, which was loaned to her by another family, because her gas line broke when the landlord suddenly ordered her trailer moved. The abrupt move left her trailer damaged, with a wide gap between the walls and roof that lets in dust and a cold draft at night. Her washing machine is broken.

Still, Melgar is reluctant to ask neighbors for help.

"They're going to say, that lady has her two hands and two feet to be able to work," she said, standing glumly at her front door. "But they don't know the situation I'm going through. For me, it's painful."

She was crestfallen when she contacted one social service agency and was told she would need "good insurance" to obtain additional supplies for her son.

One nonprofit organization that may be able to help is the MLD Foundation, based in West Linn, Ore. It was founded 13 years ago by Dean and Teryn Suhr after they learned that two of their daughters had the illness.

Contacted about Melgar's case, Dean Suhr said he has seen similar circumstances and that such families often need people in the local community to come help them.

"So often we think that situations are sad, but we don't actually go out the front door and try to do anything about them," said Suhr, the foundation's president. "It's just important for people to know that everything helps."

The foundation recently announced that after receiving a donation from the Believing for Bryleigh Foundation of New Braunfels, Texas, a new fund has been established to help improve the quality of life for people with the disease. Suhr said Melgar should be able to apply for a grant from the MLD Family Compassion Fund, which is intended to help with medical bills or other needs that aren't covered by insurance.

"We'd like to help however we can," Suhr said. "Our strengths are in connecting families with other families and resources."

That sort of assistance could eventually lighten the load a bit for Melgar. For now, she said she feels very alone.

"The only thing I have to do is fight to move forward, and gather strength and continue fighting," she said, glancing down into her son's eyes. "No matter what happens, keep fighting."

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Reyna Melgar talks to her son Josué. The child’s condition has deteriorated to the point that he can no longer speak, sit up.(Photo: Michael Snyder, The (Palm Springs, Calif.) Desert Sun)

Facts about MLD

What is metachromatic leukodystrophy?

Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. The most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life.

How common is metachromatic leukodystrophy?

Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations:

• 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites).